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Canonical Allele Identifier: Get Identifier
Gene: CNPPD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_024308558.1:p.[Ser356Gln;Thr358_Cys362delinsLeuValProTyr;His364Trp;Asn366_Val369delinsGlySer;Thr371Leu;Ser374_Ser375delinsGlu;Trp377_Tyr381del;Leu383del;Pro386_Trp389delinsPheThrSer;Pro391_Leu394delinsAla;Leu396_Gln398delinsAlaMetPhe;Gln400_Ser403del]
CA2663204285
XM_024452790.1:c.1066_1121del